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Page 1
Genome sequencing in a case of Niemann-Pick type C.
Dougherty M, Lazar J, Klein JC, Diaz K, Gobillot T, Grunblatt E, Hasle N, Lawrence D, Maurano M, Nelson M, Olson G, Srivatsan S, Shendure J, Keene CD, Bird T, Horwitz MS, Marshall DA. Dougherty M, et al. Among authors: shendure j. Cold Spring Harb Mol Case Stud. 2016 Nov;2(6):a001222. doi: 10.1101/mcs.a001222. Cold Spring Harb Mol Case Stud. 2016. PMID: 27900365 Free PMC article.
IFRD1 is a candidate gene for SMNA on chromosome 7q22-q23.
Brkanac Z, Spencer D, Shendure J, Robertson PD, Matsushita M, Vu T, Bird TD, Olson MV, Raskind WH. Brkanac Z, et al. Among authors: shendure j. Am J Hum Genet. 2009 May;84(5):692-7. doi: 10.1016/j.ajhg.2009.04.008. Epub 2009 Apr 30. Am J Hum Genet. 2009. PMID: 19409521 Free PMC article.
Massively parallel sequencing and rare disease.
Ng SB, Nickerson DA, Bamshad MJ, Shendure J. Ng SB, et al. Among authors: shendure j. Hum Mol Genet. 2010 Oct 15;19(R2):R119-24. doi: 10.1093/hmg/ddq390. Epub 2010 Sep 15. Hum Mol Genet. 2010. PMID: 20846941 Free PMC article. Review.
Noninvasive whole-genome sequencing of a human fetus.
Kitzman JO, Snyder MW, Ventura M, Lewis AP, Qiu R, Simmons LE, Gammill HS, Rubens CE, Santillan DA, Murray JC, Tabor HK, Bamshad MJ, Eichler EE, Shendure J. Kitzman JO, et al. Among authors: shendure j. Sci Transl Med. 2012 Jun 6;4(137):137ra76. doi: 10.1126/scitranslmed.3004323. Sci Transl Med. 2012. PMID: 22674554 Free PMC article.
Noninvasive fetal genome sequencing: a primer.
Snyder MW, Simmons LE, Kitzman JO, Santillan DA, Santillan MK, Gammill HS, Shendure J. Snyder MW, et al. Among authors: shendure j. Prenat Diagn. 2013 Jun;33(6):547-54. doi: 10.1002/pd.4097. Epub 2013 Apr 1. Prenat Diagn. 2013. PMID: 23553552 Free PMC article. Review.
Genome sequencing of idiopathic pulmonary fibrosis in conjunction with a medical school human anatomy course.
Kumar A, Dougherty M, Findlay GM, Geisheker M, Klein J, Lazar J, Machkovech H, Resnick J, Resnick R, Salter AI, Talebi-Liasi F, Arakawa C, Baudin J, Bogaard A, Salesky R, Zhou Q, Smith K, Clark JI, Shendure J, Horwitz MS. Kumar A, et al. Among authors: shendure j. PLoS One. 2014 Sep 5;9(9):e106744. doi: 10.1371/journal.pone.0106744. eCollection 2014. PLoS One. 2014. PMID: 25192356 Free PMC article.
Multiplex pairwise assembly of array-derived DNA oligonucleotides.
Klein JC, Lajoie MJ, Schwartz JJ, Strauch EM, Nelson J, Baker D, Shendure J. Klein JC, et al. Among authors: shendure j. Nucleic Acids Res. 2016 Mar 18;44(5):e43. doi: 10.1093/nar/gkv1177. Epub 2015 Nov 8. Nucleic Acids Res. 2016. PMID: 26553805 Free PMC article.
Identifying Novel Enhancer Elements with CRISPR-Based Screens.
Klein JC, Chen W, Gasperini M, Shendure J. Klein JC, et al. Among authors: shendure j. ACS Chem Biol. 2018 Feb 16;13(2):326-332. doi: 10.1021/acschembio.7b00778. Epub 2018 Jan 10. ACS Chem Biol. 2018. PMID: 29300083 Free PMC article. Review.
448 results